By Gary M. White, MD
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome appears to be a genodermatosis characterized by anomalous embryonic development of ectodermal tissues. There is evidence that AEC syndrome is caused by mutations in the TP63 gene, which encodes the p63 protein.
- AEC consists of ankyloblepharon filiforme adnatum (epithelial strands between the eyelids with or without partial fusion of the lids), ectodermal dysplasia (e.g., partial or complete hair loss, pointed, widely spaced teeth, absent or dystrophic nails, and partial anhidrosis), and cleft palate with or without cleft lip.
- It has been proposed that the Rapp-Hodgkin syndrome (RHS) and the AEC syndrome represent the same entity. The patient with RHS has a characteristic face (high forehead, hypoplastic maxilla, narrow, pinched nose, low bridge and small mouth). Inheritance of both syndromes is AD.
Denuded skin at birth and chronic scalp erosions complicated by infection are characteristic of this syndrome.
A bath to remove crust, local antibiotics (e.g., mupirocin), and vaseline gauze are helpful for scalp erosions. A referral to ophthalmology and plastic surgery to repair any clefting are important.
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